Recombinant Human Podocin (NPHS2) Protein (His&Myc)

Name: Recombinant Human Podocin (NPHS2) Protein (His&Myc)
Brand: Beta LifeScience
SKU: BLC-06242P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Podocin (NPHS2) Protein (His&Myc) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Activity	Not tested.
Uniprotkb	Q9NP85
Target Symbol	NPHS2
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His&C-Myc
Target Protein Sequence	CVKVVQEYERVIIFRLGHLLPGRAKGPGLFFFLPCLDTYHKVDLRLQTLEIPFHEIVTKDMFIMEIDAICYYRMENASLLLSSLAHVSKAVQFLVQTTMKRLLAHRSLTEILLERKSIAQDAKVALDSVTCIWGIKVERIEIKDVRLPAGLQHSLAVEAEAQRQAKVRMIAAEAEKAASESLRMAAEILSGTPAAVQLRYLHTLQSLSTEKPSTVVLPLPFDLLNCLSSPSNRTQGSLPFPSPSKPVEPLNPKKKDSPML
Expression Range	124-383aa
Protein Length	Partial
Mol. Weight	34.1 kDa
Research Area	Cell Biology
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
Subcellular Location	[Isoform 1]: Cell membrane; Peripheral membrane protein.; [Isoform 2]: Endoplasmic reticulum.
Protein Families	Band 7/mec-2 family
Database References	HGNC: 13394 OMIM: 600995 KEGG: hsa:7827 STRING: 9606.ENSP00000356587 UniGene: PMID: 28266622 Mutations of NPHS2 gene are common among Egyptian children with Steroid-resistant nephrotic syndrome. PMID: 28385484 C-terminal oligomerization of podocin can mediate both a dominant negative effect and interallelic complementation. Interallelic interactions of NPHS2 are not restricted to the R229Q variant and have to be considered in compound heterozygous individuals. PMID: 29660491 Heterozygous deletion in the NPHS2 gene involved in familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. PMID: 27573339 polymorphisms predicted in this study might be disease causing in the NPHS2 gene and may have influence on the therapeutic response of nephrotic syndrome patients PMID: 28712774 Mutations in podocin alter the innate intraprotein interactions affecting the native structure of podocin and its ability to form critical complex with subpodocyte proteins PMID: 27193387 NPHS2 mutations/SNPs serve as important molecular markers in treating children with early stage idiopathic nephrotic syndrome. PMID: 26820844 Two siblings with CRB2 -related syndrome were both heterozygous for a variant in NPHS2. PMID: 27004616 This study shows that p.R229Q and p.A284V are the most frequent variants in Chilean children with steroid resistant nephrotic syndrome; it is the first time that this relationship has been reported in Chilean children PMID: 26455708 Ubiquitin ligase Ubr4 is a key component of the podocin interactome purified from podocytes. Ubiquitylation of one podocin site, K301, do not only target podocin for proteasomal degradation, but may also affect stability and disassembly of the multimeric complex. PMID: 26792178 Oligoallelic amino acid mutations in podocin may be potential causative mutations for proteinuria (meta-analysis) PMID: 26211502 The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations PMID: 26138234 translocation of podocin by endocytosis could be a key traffic event of critical podocyte injury and that the podocin gap could indicate the prognosis of IgA nephropathy. PMID: 25676004 NPHS2 mutations account for only 15% of nephrotic syndrome cases. PMID: 26420286 NPHS2 rs61747728 variant is not associated with nephrotic syndrome in children. PMID: 25599733 A single gene is involved in the development of steroid-resistant nephrotic syndrome. PMID: 25349199 NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by late SRNS in Chinese southern infants PMID: 25112471 for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome; the p.R229Q allele cannot currently be considered a risk factor for predicting focal segmental glomerulosclerosis. PMID: 24715228 Thus, NPHS2 gene showed R229Q polymorphism and patients achieved partial remission to therapy. PMID: 24519673 Variants in NPHS2, SDCCAG8 and near BMP4 appear to interact with APOL1 to modulate the risk for non-diabetic end stage kidney disease in african americans. PMID: 24157943 NPHS2 mutations are prevalent in Indian patients with , Idiopathic, steroid-resistant Nephrotic syndrome and this may in part explain the less favourable prognosis reported in these patients. PMID: 24674236 Four patients had homozygous c.413G>A (p.Arg138Gln) NPHS2 mutations; one subject was homozygous for c.868G>A (p.Val290Met) NPHS2. PMID: 24856380 Case Report: novel NPHS2 sequence variant in a girl with steroid-resistant nephrotic syndrome and focal and segmental glomerulosclerosis. PMID: 24969201 the frequency of identified disease causing mutations (NPHS1 and NPHS2) in children with steroid-resistant nephrotic syndome is 11.4%, and they show no response to treatment. PMID: 24413855 The results suggest that the functions of Nephrin and Podocin are highly conserved between the zebrafish pronephros and mammalian metanephros. PMID: 24337247 25 novel pathogenic mutations have been identified in steroid-resistant nephrotic syndrome. They includes missense, nonsense, small insertions, small deletions, splicing, indel mutations, and a mutation in the stop codon. PMID: 24227627 Mutations of podocin were frequent among south-west Iranian pediatric population with steroid-resistant nephrotic syndrome. PMID: 24072147 the carboxyl terminus of podocin/MEC-2 has to be placed at the inner leaflet of the plasma membrane to mediate cholesterol binding and contribute to ion channel activity. PMID: 24596097 The NPHS2 gene p.R229Q polymorphism does not present in an Iranian-Azeri population with late-onset steroid-resistance nephrotic syndrome. PMID: 24072153 present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated 3' mutation PMID: 24509478 Focal segmental glomerulosclerosis patients with NPHS2 homozygous p.R229Q should be screened for the causative mutation in a second gene. PMID: 23800802 The podocin mutation R229Q may play a role in the pathogenesis of focal segmental glomerulosclerosis and in early recurrence after transplantation, but does not allow accurate prediction of recurrence or the associated potential for prevention. PMID: 23982418 study identified NPHS2 mutations in Mexican children with nephrotic syndrome; Podocin heterozygous missense mutations L139R and L142P were found; the former was found in steroid-sensitive and steroid-resistant children; the latter was found in a steroid-resistant child PMID: 23913389 analysis of NPHS2 mutations in Polish patients with steroid-resistant nephrotic syndrome reveals a founder effect PMID: 23645318 A second short isoform of podocin was found to be expressed in the kidney. PMID: 23648087 an Iranian family of familial steroid-resistant nephrotic syndrome with 3 affected children was reported in which NPHS2 gene has been detected; in exon 4 of the NPHS2 gene, c.503G>A X R168H homozygous mutation was found; both parents of index case were heterozygous carrier with the same mutation compatible with recessive inheritance PMID: 23013956 Suggest screening for NPHS2 p.R229Q/p.V290M mutations in Central and Eastern European patients with late-onset steroid-resistant nephrotic syndrome. PMID: 23242530 A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene. PMID: 22565185 We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with sporadic steroid resistant nephrotic syndrome. Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon. PMID: 22080622 NPHS2 mutations are rare in patients with adult onset of FSGS/MCD. The R229Q polymorphism is frequent in the Czech population and probably could have some influence on IGAN PMID: 22578956 NPHS2 polymorphisms were identified in northern Chinese IgA nephropathy patients. The frequencies of NPHS2 T allele and TT/CT genotype were the protective factors for urinary protein. PMID: 22321327 in patients with familial hematuria, NPHS2-R229Q predisposes to proteinuria and end-stage kidney disease PMID: 22228437 NPHS2 mutations account for a significant proportion of all nephrotic patients, roughly corresponding to a mutation detection rate of 45-55% in families with recessive traits and 8-20% of sporadic cases. PMID: 22120861 we are for the first time able to prove the expression of a novel podocin isoform (isoform 2), exclusively and constitutively expressed in human podocytes, and reveal singular extrarenal podocin expression in human and murine testis PMID: 21499232 Data show that the main slit diaphragm proteins, nephrin and podocin, are affected from the earlier stages of lupus nephritis and their expression correlates with disease histology. PMID: 21478284 The urinary mRNA profiles of synaptopodin, podocalyxin, CD2-AP, alpha-actin4, and podocin were found to increase with the progression of diabetic nephropathy. PMID: 21655212 NPHS2 mutation analysis has a clinical value in both childhood- and adult-onset steroid-resistant nephrotic syndrome patients. PMID: 20947785 Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in NPHS2. PMID: 21125408 plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation. A combined heterozygous form of two NPHS2 gene mutations (p.R138Q and p.V290M) was diagnosed PMID: 21171529 NPHS2 mutations are not a major cause of familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group. PMID: 19099831

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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